Exome-Seq: #Quality #Genetics

30 April 2020

Proud to announce that we are keeping our quality standards high by qualifying again above the mean in the external quality assessment of NextGen DNA Sequencing by the European Molecular Genetics Quality Network (EMQN).

Although IGATech provides service for research purposes only, we validated our exome-seq workflow by participating in the NGS vGermline scheme designed to test the whole analytical process of a molecular diagnostics laboratory.




Here is how it went: we received the DNA from EMQN and had 6 weeks to process the sample using our standard NGS procedure for germline testing, and deliver back FASTQ, BAM and VCF files that were subjected to the quality assessment.

We performed hybrid capture by using Agilent SureSelect Human All Exon v7 targeting 35.7 Mb of the coding sequence. Library was sequenced on NovaSeq 6000 in a 150bp paired-end mode producing in total 120 M reads. Finally, sequences were analysed with our pipeline for the detection of human germline sequence variants.

Congratulations to all the team and special thanks to Eleonora, Giorgia and Simone!